Autosomal dominant adult amyotrophic lateral sclerosis

Veltema, A.N.; Roos, R.A.C.; Bruyn, G.W.

doi:10.1016/0022-510x(90)90101-r

Cited by 22 publications

(7 citation statements)

References 26 publications

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“…There is an often Mendelian inheritance and high penetrance, with most cases having autosomal dominant pattern of inheritance, although autosomal recessive pedigrees have been reported [ 28 , 29 ]. The ages of onset of FALS is about a decade earlier than for sporadic cases, affects males and female equally, and have a shorter survival [ 28 , 30 , 31 ]. Age of onset in FALS has a normal Gaussian distribution, whereas SALS has an age dependant incidence [ 32 ].…”

Section: Epidemiologymentioning

confidence: 99%

Amyotrophic lateral sclerosis

Wijesekera

Leigh

2009

Orphanet J Rare Dis

890

711

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio~1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1-2 years. Paralysis is progressive and leads to death due to respiratory failure within 2-3 years for bulbar onset cases and 3-5 years for limb onset ALS cases. Most ALS cases are sporadic but 5-10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2-5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitinimmunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in degenerating lower motor neurones. Signs of upper motor neurone and lower motor neurone damage not explained by any other disease process are suggestive of ALS. The management of ALS is supportive, palliative, and multidisciplinary. Non-invasive ventilation prolongs survival and improves quality of life. Riluzole is the only drug that has been shown to extend survival.

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Section: Epidemiologymentioning

confidence: 99%

Amyotrophic lateral sclerosis

Wijesekera

Leigh

2009

Orphanet J Rare Dis

890

711

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“…Symptoms of an autosomal recessive form of spinocerebellar degeneration in human kindred appear at an average age of 15 yr (Al-Din et al ., 1990) . Autosomal dominant Machado-Joseph Disease can appear in the fourth and fifth decade (Suite et al ., 1986), while autosomal dominant adult amyotrophic lateral sclerosis appears at 19-46 yr (Veltema et al ., 1990) .…”

Section: Discussionmentioning

confidence: 99%

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.

Peters

Birkenmeier

Bronson

et al. 1991

The Journal of Cell Biology

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“…Death from ventilatory failure usually follows within 5 years of onset [19,20]. Motor Neuron Disease (MND) or Amyotrophic lateral sclerosis (ALS) patients are accorded different levels of diagnostic certainty (definite, probable, possible and suspected) as per El Escorial criteria (EEC) [21].…”

Section: Introductionmentioning

confidence: 99%